Canonical Allele Identifier: CA394824427

Gene: ERCC4

Linked Data

• COSMIC: COSM4058420
• MyVariant Identifiers: chr16:g.14042001G>C (hg19) ; chr16:g.13948144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948144G>C , CM000678.2:g.13948144G>C	GRCh38
NC_000016.9:g.14042001G>C , CM000678.1:g.14042001G>C	GRCh37
NC_000016.8:g.13949502G>C	NCBI36
NG_011442.1:g.32988G>C , LRG_463:g.32988G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2686G>C	ENSP00000507912.1:p.Asp896His
ENST00000683962.1:c.*2242G>C	ENSP00000506854.1:n.*2242G>C
ENST00000311895.8:c.2548G>C MANE Select	ENSP00000310520.7:p.Asp850His
ENST00000311895.7:c.2548G>C	ENSP00000310520.7:p.Asp850His
ENST00000389138.7:n.1825G>C
NM_005236.2:c.2548G>C , LRG_463t1:c.2548G>C	NP_005227.1:p.Asp850His
XM_011522424.1:c.2686G>C	XP_011520726.1:p.Asp896His
XM_011522425.1:c.2005G>C	XP_011520727.1:p.Asp669His
XM_011522426.1:c.1759G>C	XP_011520728.1:p.Asp587His
XM_011522427.1:c.1198G>C	XP_011520729.1:p.Asp400His
XR_932805.1:n.2707G>C
XM_011522424.3:c.2686G>C	XP_011520726.1:p.Asp896His
XM_017023043.2:c.1759G>C	XP_016878532.1:p.Asp587His
NM_005236.3:c.2548G>C MANE Select	NP_005227.1:p.Asp850His